title: Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV.
abstract: An infant with severe deficiency of complex III combined with less severe deficiencies of complexes I, II and IV of the mitochondrial respiratory chain in skeletal muscle tissue presented with intra-uterine growth retardation, generalized hypotonia and delayed motor development. In the following 3.5 years muscle tone and motor development gradually normalized whereas the lactic acidosis and enzyme activities did not improve.
  
  
  CONCLUSIONS
  This report documents a favourable clinical course in a child with combined respiratory chain deficiency despite persistent biochemical abnormalities.
authors.affiliation: Department of Paediatrics, University Children's Hospital Nijmegen, The Netherlands.
authors.forename: M E
authors.initials: ME
authors.lastname: Rubio-Gozalbo
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: H A
authors.initials: HA
authors.lastname: Bentlage
authors.forename: H
authors.initials: H
authors.lastname: Schägger
authors.forename: R C
authors.initials: RC
authors.lastname: Sengers
authors.forename: J M
authors.initials: JM
authors.lastname: Trijbels
authors.forename: H J
authors.initials: HJ
authors.lastname: ter Laak
authors.forename: E C
authors.initials: EC
authors.lastname: Mariman
authors.forename: M M
authors.initials: MM
authors.lastname: Bakker
authors.forename: J
authors.initials: J
authors.lastname: de Jager
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
mesh_terms: D002675:Child, Preschool; D042963:Electron Transport Complex II; D014450:Electron Transport Complex III / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000503:physiopathology; D008931:Mitochondria, Muscle / Q000201:enzymology; D009097:Multienzyme Complexes / Q000172:deficiency; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000172:deficiency; D010088:Oxidoreductases / Q000172:deficiency; D013385:Succinate Dehydrogenase / Q000172:deficiency
chemical_list: D009097:Multienzyme Complexes; D010088:Oxidoreductases; D042963:Electron Transport Complex II; D013385:Succinate Dehydrogenase; D016660:NAD(P)H Dehydrogenase (Quinone); D014450:Electron Transport Complex III